DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: MTOR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1883965	MTOR	0.807	0.160	1	11262099	intron variant	A/G	snv		0.63	8
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs773862672	MTOR	0.882	0.280	1	11247922	missense variant	G/A;C	snv	1.2E-05		6
rs863225264	MTOR	0.827	0.240	1	11130747	missense variant	C/T	snv			6
rs1057519914	MTOR	0.851	0.240	1	11157174	missense variant	A/G	snv			5
rs1057519915	MTOR	0.851	0.160	1	11109318	missense variant	A/C	snv			5
rs1034528	MTOR ; ANGPTL7	0.882	0.120	1	11189075	intron variant	G/C	snv		0.30	5
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5
rs1057519916	MTOR	0.882	0.160	1	11109320	missense variant	T/A	snv			4
rs2295079	MTOR	0.925	0.080	1	11262508	5 prime UTR variant	C/G	snv		0.54	4
rs786205165	MTOR	0.882	0.120	1	11157173	missense variant	C/A;T	snv			4
rs869312666	MTOR	0.925	0.160	1	11129789	missense variant	A/C	snv			4
rs878855328	MTOR	0.882	0.120	1	11117039	missense variant	C/T	snv			4
rs17036508	MTOR ; ANGPTL7	0.925	0.080	1	11195977	3 prime UTR variant	T/C	snv		9.0E-02	4
rs1057519913	MTOR	0.925	0.120	1	11157172	missense variant	G/C	snv			3
rs1064261	MTOR	0.925	0.080	1	11228701	missense variant	G/A;T	snv	0.75; 4.0E-06		3
rs11121704	MTOR			1	11233902	intron variant	C/A;T	snv			3
rs118203945	MTOR ; UBIAD1	0.882	0.280	1	11273836	missense variant	A/G	snv			3
rs3806317	ANGPTL7 ; MTOR	0.925	0.080	1	11188159	intron variant	A/G	snv		3.4E-02	2
rs1057519779	MTOR	0.925	0.200	1	11157242	missense variant	A/G	snv			2
rs12125777	MTOR	0.925	0.080	1	11261608	intron variant	C/T	snv		5.1E-02	2